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There are 1254 results for: content related to: Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome

  1. A patient with de novo 0.45 Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 4, April 2013, Pages: 865–870, Miroslava Hancarova, Martina Simandlova, Jana Drabova, Katrin Mannik, Ants Kurg and Zdenek Sedlacek

    Article first published online : 12 MAR 2013, DOI: 10.1002/ajmg.a.35783

  2. Further characterization of microdeletion syndrome involving 2p15-p16.1

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 10, October 2010, Pages: 2604–2608, Têmis Maria Félix, Aline Lourenço Petrin, Maria Teresa Vieira Sanseverino and Jeffrey C. Murray

    Article first published online : 26 AUG 2010, DOI: 10.1002/ajmg.a.33612

  3. Deletion 2p15–16.1 syndrome: Case report and review

    American Journal of Medical Genetics Part A

    Volume 155, Issue 10, October 2011, Pages: 2473–2478, Paolo Prontera, Laura Bernardini, Gabriela Stangoni, Anna Capalbo, Daniela Rogaia, Rita Romani, Carmela Ardisia, Bruno Dallapiccola and Emilio Donti

    Article first published online : 9 SEP 2011, DOI: 10.1002/ajmg.a.33875

  4. Genomic microarrays in mental retardation: A practical workflow for diagnostic applications

    Human Mutation

    Volume 30, Issue 3, March 2009, Pages: 283–292, David A. Koolen, Rolph Pfundt, Nicole de Leeuw, Jayne Y. Hehir-Kwa, Willy M. Nillesen, Ineke Neefs, Ine Scheltinga, Erik Sistermans, Dominique Smeets, Han G. Brunner, Ad Geurts van Kessel, Joris A. Veltman and Bert B.A. de Vries

    Article first published online : 9 DEC 2008, DOI: 10.1002/humu.20883

  5. Phenotype–genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 2, 15 January 2008, Pages: 225–232, William T. Gibson, Chansonette Harvard, Ying Qiao, Martin J. Somerville, M.E. Suzanne Lewis and Evica Rajcan-Separovic

    Article first published online : 12 DEC 2007, DOI: 10.1002/ajmg.a.32056

  6. Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH

    American Journal of Medical Genetics Part A

    Volume 139A, Issue 3, 15 December 2005, Pages: 173–185, C. Tyson, C. Harvard, R. Locker, J.M. Friedman, S. Langlois, M.E.S. Lewis, M. Van Allen, M. Somerville, L. Arbour, L. Clarke, B. McGilivray, S.L. Yong, J. Siegel-Bartel and E. Rajcan-Separovic

    Article first published online : 10 NOV 2005, DOI: 10.1002/ajmg.a.31015

  7. Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH

    American Journal of Medical Genetics Part A

    Volume 129A, Issue 3, 1 September 2004, Pages: 254–260, Christine Tyson, Barbara McGillivray, Chieko Chijiwa and Evica Rajcan-Separovic

    Article first published online : 21 JUL 2004, DOI: 10.1002/ajmg.a.30245

  8. Negative control glucose dependent mediated by the PreS2 region on the translation efficiency of the reporter Sh-bleomycin gene in Saccharomyces cerevisiae

    FEMS Yeast Research

    Volume 14, Issue 2, March 2014, Pages: 357–363, Nadia Hadiji-Abbes, Istabrak Borchani-Chabchoub, Ali Gargouri and Raja Mokdad-Gargouri

    Article first published online : 9 DEC 2013, DOI: 10.1111/1567-1364.12117

  9. Spectral properties of the Peregrine soliton observed in a water wave tank

    Journal of Geophysical Research: Oceans (1978–2012)

    Volume 117, Issue C11, November 2012, A. Chabchoub, S. Neumann, N. P. Hoffmann and N. Akhmediev

    Article first published online : 7 FEB 2012, DOI: 10.1029/2011JC007671

  10. Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability

    Clinical Genetics

    Volume 83, Issue 2, February 2013, Pages: 145–154, Y Qiao, C Tyson, M Hrynchak, E Lopez-Rangel, J Hildebrand, S Martell, C Fawcett, L Kasmara, K Calli, C Harvard, X Liu, JJA Holden, SME Lewis and E Rajcan-Separovic

    Article first published online : 9 APR 2012, DOI: 10.1111/j.1399-0004.2012.01860.x

  11. Re: Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions: Bruyere H, Rajcan-Separovic E, Doyle J, Pantzar T, Langlois S

    American Journal of Medical Genetics Part A

    Volume 130A, Issue 4, 1 November 2004, Pages: 439–440, Carlos A. Bacino, Farideh Z. Bischoff and Lisa G. Shaffer

    Article first published online : 7 JUN 2004, DOI: 10.1002/ajmg.a.30219

  12. Observation of rogue wave holes in a water wave tank

    Journal of Geophysical Research: Oceans (1978–2012)

    Volume 117, Issue C11, November 2012, A. Chabchoub, N. P. Hoffmann and N. Akhmediev

    Article first published online : 1 FEB 2012, DOI: 10.1029/2011JC007636

  13. Submicroscopic distal deletion of the long arm of chromosome 13(13q34) with corpus callosum agenesis

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 8, August 2009, Pages: 1834–1836, Ingrid Witters, Elyes Chabchoub, Joris R. Vermeesch and Jean-Pierre Fryns

    Article first published online : 16 JUL 2009, DOI: 10.1002/ajmg.a.32978

  14. Observation of hole Peregrine soliton in a multicomponent plasma with critical density of negative ions

    Journal of Geophysical Research: Space Physics

    Volume 118, Issue 2, February 2013, Pages: 919–924, S. K. Sharma and H. Bailung

    Article first published online : 28 FEB 2013, DOI: 10.1002/jgra.50111

  15. A multi-start threshold accepting algorithm for multiple objective continuous optimization problems

    International Journal for Numerical Methods in Engineering

    Volume 83, Issue 11, 10 September 2010, Pages: 1498–1517, Souhail Dhouib, Aïda Kharrat and Habib Chabchoub

    Article first published online : 19 AUG 2010, DOI: 10.1002/nme.2873

  16. Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated

    Clinical Genetics

    Volume 81, Issue 6, June 2012, Pages: 584–589, E Chabchoub, D Willekens, JR Vermeesch and J-P Fryns

    Article first published online : 23 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01684.x

  17. Recurrent trisomy 15 in a female carrier of der(15)t(Y;15)(q12;p13)

    American Journal of Medical Genetics

    Volume 99, Issue 4, 1 April 2001, Pages: 320–324, Evica Rajcan-Separovic, Wendy P. Robinson, Mary Stephenson, Tapio Pantzar, Laura Arbour, Deborah McFadden and Janet Guscott

    Article first published online : 21 FEB 2001, DOI: 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1173>3.0.CO;2-1

  18. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 13, 1 July 2008, Pages: 1637–1654, William B. Dobyns, Ghayda Mirzaa, Susan L. Christian, Kristin Petras, Jessica Roseberry, Gary D. Clark, Cynthia J.R. Curry, Donna McDonald-McGinn, Livija Medne, Elaine Zackai, Julie Parsons, Dina J. Zand, Fuki M. Hisama, Christopher A. Walsh, Richard J. Leventer, Christa L. Martin, Marzena Gajecka and Lisa G. Shaffer

    Article first published online : 5 JUN 2008, DOI: 10.1002/ajmg.a.32293

  19. Additional information from chromosomal microarray analysis (CMA) over conventional karyotyping when diagnosing chromosomal abnormalities in miscarriage: a systematic review and meta-analysis

    BJOG: An International Journal of Obstetrics & Gynaecology

    Volume 121, Issue 1, January 2014, Pages: 11–21, RK Dhillon, SC Hillman, RK Morris, D McMullan, D Williams, A Coomarasamy and MD Kilby

    Article first published online : 17 JUL 2013, DOI: 10.1111/1471-0528.12382

  20. Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 3, March 2009, Pages: 490–495, C. Tyson, A.J. Dawson, S. Bal, M. Tomiuk, T. Anderson, D. Tucker, D. Riordan, I. Chudoba, B. Morash, A. Mhanni, A.E. Chudley, B. McGillivray, M. Parslow, G. Rappold, R. Roeth, C. Fawcett, Y. Qiao, C. Harvard and E. Rajcan-Separovic

    Article first published online : 11 FEB 2009, DOI: 10.1002/ajmg.a.32535